Oculocutaneous albinism ndi gulu la matenda obadwa nawo omwe amadziwika ndi kuwonongeka kwa khungu, tsitsi ndi maso. Ndipotu, kupezeka kwa melanin pigment mu iris ndi retina kumatanthauza kuti alubino nthawi zonse amatsagana ndi kukhudzidwa kwa maso.

Albino ndi chiyani?

Tanthauzo lachialubino

Oculocutaneous albinism ndi chifukwa cha vuto la kupanga melanin pigment ndi melanocytes, chifukwa cha kusintha kwa majini.

Mitundu yosiyanasiyana ya ma alubino:

Albino mtundu 1

Izi zimachitika chifukwa cha kusintha kwa jini ya enzyme tyrosinase yomwe imathandizira kwambiri kupanga pigment ndi melanocyte.

Mtundu wa Albinism 1A

Pali kuthetsedwa kwathunthu kwa ntchito ya tyrosinase enzyme. Chifukwa chake odwala alibe pigment pakhungu, tsitsi ndi maso kuyambira kubadwa, zomwe zimawapangitsa kukhala oyera mpaka tsitsi loyera ndi maso ofiira (kuwonongeka kwa pigment mu iris kumapangitsa kuti retina iwoneke mofiyira)

Mtundu wa Albinism 1B

Kuchepa kwa ntchito ya tyrosinase kumakhala kocheperako. Odwala alibe pigment pakhungu ndi maso pa kubadwa, kuwapanga woyera ndi maso ofiira, koma kwa miyezi yoyamba ya moyo zizindikiro za pigment kupanga mosiyanasiyana mwamphamvu kuonekera pa khungu ndi iris. (kusiyana kuchokera ku buluu kupita ku lalanje-chikasu). Timalankhula za yellow mutant kapena yellow albinism.

Albino mtundu 2

Ndiwofala kwambiri mwa maalubino, makamaka mu Africa. Jini yodalirika ndi P jini ya chromosome 15 yomwe imagwira ntchito yonyamula tyrosine.

Pobadwa, ana akuda amakhala ndi khungu loyera koma tsitsi la blond. Tsitsi likamakula, limasanduka ngati udzu ndipo khungu limatha kukhala ndi mawanga, mawanga akuda kapena timadontho. Mitundu ya irises imakhala yabuluu kapena yachikasu mpaka yofiirira.

Albino mtundu 3

Ndizosowa kwambiri ndipo zimapezeka pakhungu lakuda. Zimalumikizidwa ndi masinthidwe amtundu wa TRP-I: khungu ndi loyera, irises yowala yobiriwira-bulauni ndi tsitsi lofiira.

Mitundu ina yosowa ya alubino

Hermansky-Pudlak syndrome

Mwa kusintha kwa jini pa chromosome 10 ndikuyika puloteni ya lysosome. Matendawa amaphatikiza ma alubino ndi matenda a coagulation, pulmonary fibrosis, granulomatous colitis, kulephera kwaimpso ndi cardiomyopathy.

Syndrome ya Chediak-Higashi

Mwa kusintha kwa jini pa chromosome 1 ndikuyika puloteni yomwe imakhudzidwa ndi kayendedwe ka pigment. Matendawa amakhudzana ndi kutsika kwamtundu wapakatikati, tsitsi lokhala ndi chitsulo chowoneka ngati "silvery" wotuwa, komanso chiopsezo chowonjezeka cha lymphoma kuyambira unyamata.

Griscelli-Pruniéras syndrome

Mwa kusintha kwa jini pa chromosome 15 kubisa puloteni yomwe imagwira ntchito yotulutsa pigment, imagwirizanitsa kuwonongeka kwa khungu, tsitsi lasiliva ndi khungu pafupipafupi, ENT ndi matenda opuma komanso chiwopsezo cha matenda amagazi. zakupha.

Zomwe zimayambitsa alubino

Albino ndi a matenda obadwa nawo mwa kusintha kwa jini yomwe imapangitsa kupanga kapena kutumiza kwa pigment ya khungu ndi melanocyte. Chifukwa chake khungu ndi ma integment sizikhala ndi mwayi wopaka utoto bwino.

Njira yopatsira masinthidwewa kuchokera kwa kholo kupita kwa mwana nthawi zambiri amakhala autosomal recessive, mwachitsanzo, makolo onse ayenera kukhala onyamula jini yomwe sinafotokozedwe mwa iwo komanso kuti majini awiriwa (wabambo, wina wamayi) amapezeka. mu mwana.

Tonse timanyamula majini awiri, imodzi mwa jini yomwe ili yolamulira (yomwe imadziwonetsera yokha) ndi ina yobwerezabwereza (yomwe siidziwonetsera yokha). Ngati jini ya recessive ili ndi masinthidwe, chifukwa chake sichimawonetsedwa mwa munthu yemwe ali ndi jini yayikulu yomwe siyisintha. Komano, pakupanga ma gametes (spermatozoa mwa amuna ndi ova mwa akazi), theka la gametes limalandira jini yosinthika. Ngati anthu awiri atenga mwana ndipo ali onyamula jini ya mutated recessive, ndiye kuti pali chiopsezo kuti mwanayo adachokera ku umuna womwe uli ndi jini yosinthika yosinthika komanso kuchokera ku dzira lokhala ndi jini yofananira. Popeza mwanayo alibe lalikulu jini koma awiri mutated recessive majini, ndiye kufotokoza matenda. Kuthekera kumeneku n’kochepa kwambiri, choncho nthaŵi zambiri m’banjamo mulibe anthu ena achialubino.

Ndani amakhudzidwa kwambiri?

Ualubino ukhoza kukhudza anthu aku Caucasus koma umapezeka kwambiri ku Africa pakhungu lakuda.

Kusintha komanso zovuta zomwe zingachitike

Mavuto aakulu omwe amayamba chifukwa cha alubino ndi maso ndi khungu. Palibe vuto lina lamagazi kapena chiwalo kupatula mu Hermansky-Pudlak, Chediak-Higashi ndi Griscelli-Prunieras syndromes.

Ngozi yapakhungu

Kuwala koyera kumapangidwa ndi mitundu ingapo "yosonkhanitsidwa", yomwe "imasiyana" mwachitsanzo pakupanga utawaleza. Utoto umachokera ku chinthu chomwe mamolekyu ali nacho chotengera mitundu yonse ya kuwala kupatula umodzi, mwachitsanzo buluu umatenga chilichonse kupatula buluu, womwe umawonekera pa retina yathu. Zotsatira zakuda chifukwa cha kuyamwa kwa mitundu yonse. Khungu lakuda la khungu limapangitsa kuti lizitha kuyamwa mitundu ya kuwala komanso makamaka ma Ultra Violets (UV) omwe amayambitsa ngozi yapakhungu. Kusapezeka kwa mtundu umene umabwera chifukwa cha matendawa kumapangitsa khungu la odwala kukhala “loonekera” ku cheza cha ultraviolet chifukwa palibe chimene chimayamwa ndipo chingaloŵe pakhungu ndi kuwononga maselo a mmenemo, kuchititsa ngozi ya khansa yapakhungu.

Choncho, ana omwe ali ndi alubino ayenera kupewa kukhudzana ndi khungu lawo ndi kuwala kwa dzuwa pokonzekera zochitika zawo (mwachitsanzo, m'nyumba osati masewera akunja), kuvala zophimba ndi zodzitetezera ndi mankhwala a dzuwa.

Kuopsa kwa maso

Odwala ndi alubino si akhungu, koma kuona acuity, pafupi ndi kutali, yafupika, nthawi zina kwambiri, amafuna kuvala magalasi kukonza, nthawi zambiri tinted kuteteza maso ku dzuwa chifukwa iwonso akumanidwa pigment.

Kuchokera ku sukulu ya kindergarten, mwana wa albino yemwe ali ndi vuto lachiwonetsero amayikidwa pafupi ndi gululo ndipo, ngati n'kotheka, akuthandizidwa ndi mphunzitsi wapadera.